SRY基因

SRY基因（sex-determining region of Y-chromosome，全称：Y染色体性别决定区），又名睾丸决定因子，（英语：Testis-determining factor，简称TDF）是人体Y染色体上的一段基因片段，该基因是决定男性睾丸发育的主要基因。存在于Y染色体的短臂末端上。

SRY基因
已知的结构 PDB 直系同源搜索: PDBe RCSB PDBID列表 1HRY、​1HRZ、​1J46、​1J47、​2GZK
识别号
别名	SRY；, SRXX1, SRXY1, TDF, TDY, Testis determining factor, sex determining region Y, Sex-determining region of Y-chromosome, Sex-determining region Y
外部ID	OMIM：480000 MGI：98660 HomoloGene：48168 GeneCards：SRY
基因位置（人类） 染色体 Y染色体[1] 基因座 Yp11.2 起始 2,786,855 bp[1] 终止 2,787,682 bp[1]
基因位置（小鼠） 染色体 小鼠Y染色体[2] 基因座 Y|Ypter 起始 2,662,471 bp[2] 终止 2,663,658 bp[2]
RNA表达模式
查阅更多表达数据
基因本体 分子功能 • DNA结合转录因子活性 • 转录因子结合 • calmodulin binding • transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding • DNA结合 • DNA-binding transcription factor activity, RNA polymerase II-specific • 血浆蛋白结合 • DNA-binding transcription activator activity, RNA polymerase II-specific 细胞组分 • 细胞质 • nuclear speck • 核质 • 细胞核 生物学过程 • 细胞分化 • regulation of transcription, DNA-templated • sex differentiation • transcription, DNA-templated • positive regulation of transcription, DNA-templated • positive regulation of male gonad development • male sex determination • regulation of transcription by RNA polymerase II • negative regulation of transcription by RNA polymerase II • positive regulation of transcription by RNA polymerase II • central nervous system development • positive regulation of gene expression • neuron differentiation Sources:Amigo / QuickGO
直系同源
物种	人类	小鼠
Entrez	6736	21674
Ensembl	ENSG00000184895	ENSMUSG00000069036
UniProt	Q05066	Q05738
mRNA​序列	NM_003140	NM_011564
蛋白序列	NP_003131	NP_035694
基因位置​（UCSC）	Chr Y: 2.79 – 2.79 Mb	Chr Y: 2.66 – 2.66 Mb
PubMed​查找	[3]	[4]
维基数据
查看/编辑人类 查看/编辑小鼠

该基因由Sinclair在1990年发现。

有些人宣称，SRY基因就是唯一一个性别决定基因，因此可以通过寻找该基因片段，达到判断测试者的性别的目的，若样本中存在该基因表示受试者是男性，否则为女性。然而一篇有一千六百馀名科学家签名的声明（包括700 名生物学者、100名遗传学者、9名诺贝尔奖得主）指出：目前不存在任何方式可以准确地判断生理性别，且即使有办法判断，也不应该因此限制人们追求不同的自我认同。^[5]

功能

简单来说，在怀孕期间，分布于生殖嵴上的原基性腺的双功能细胞同时具备分化成男性腺细胞或者女性腺细胞的能力。而睾丸决定因子就会启动男性专用的转录因子，令这些细胞开始分裂，并分化成为睾丸。 TDF会上调表达SOX9这个具有同TDF相近的DNA结合位的转录因子。SOX9会上调成纤维细胞生长因子9，而成纤维细胞生长因子9反过来上调SOX9。这样，SOX9最终上升到合适的浓度，于是性腺上的双功能细胞就会开始分化成塞尔托利氏细胞。另外，有表达TDF的细胞持续生长去形成原基睾丸。

相关条目

• Eif2s3y基因
• CBX2基因（英语：CBX2 (gene)）

注释

1. GRCh38: Ensembl release 89: ENSG00000184895 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000069036 - Ensembl, May 2017
3. Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
4. Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Over 1,600 scientists condemn Trump transgender proposal. BBC. 2018-11-02 [2019-01-19]. （原始内容存档于2019-01-20） （英语）.

延伸阅读

• Haqq CM, King CY, Ukiyama E, Falsafi S, Haqq TN, Donahoe PK, Weiss MA. Molecular basis of mammalian sexual determination: activation of Müllerian inhibiting substance gene expression by SRY. Science. December 1994, 266 (5190): 1494–500. Bibcode:1994Sci...266.1494H. PMID 7985018. doi:10.1126/science.7985018.
• Goodfellow PN, Lovell-Badge R. SRY and sex determination in mammals. Annual Review of Genetics. 1993, 27: 71–92. PMID 8122913. doi:10.1146/annurev.ge.27.120193.000443.
• Hawkins JR. Mutational analysis of SRY in XY females. Human Mutation. 1993, 2 (5): 347–50. PMID 8257986. doi:10.1002/humu.1380020504.
• Harley VR. The molecular action of testis-determining factors SRY and SOX9. Novartis Foundation Symposia 244. 2002: 57–66; discussion 66–7, 79–85, 253–7. ISBN 978-0-470-86873-7. PMID 11990798. doi:10.1002/0470868732.ch6. |journal=被忽略 (帮助)
• Jordan BK, Vilain E. Sry and the genetics of sex determination. Advances in Experimental Medicine and Biology 511. 2003: 1–13; discussion 13–4. ISBN 978-1-4613-5162-7. PMID 12575752. doi:10.1007/978-1-4615-0621-8_1. |journal=被忽略 (帮助)
• Oh HJ, Lau YF. KRAB: a partner for SRY action on chromatin. Molecular and Cellular Endocrinology. March 2006, 247 (1–2): 47–52. PMID 16414182. doi:10.1016/j.mce.2005.12.011.
• Polanco JC, Koopman P. Sry and the hesitant beginnings of male development. Developmental Biology. February 2007, 302 (1): 13–24. PMID 16996051. doi:10.1016/j.ydbio.2006.08.049.
• Hawkins JR, Taylor A, Berta P, Levilliers J, Van der Auwera B, Goodfellow PN. Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Human Genetics. February 1992, 88 (4): 471–4. PMID 1339396. doi:10.1007/BF00215684.
• Hawkins JR, Taylor A, Goodfellow PN, Migeon CJ, Smith KD, Berkovitz GD. Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. American Journal of Human Genetics. November 1992, 51 (5): 979–84. PMC 1682856 . PMID 1415266.
• Ferrari S, Harley VR, Pontiggia A, Goodfellow PN, Lovell-Badge R, Bianchi ME. SRY, like HMG1, recognizes sharp angles in DNA. The EMBO Journal. December 1992, 11 (12): 4497–506. PMC 557025 . PMID 1425584. doi:10.1002/j.1460-2075.1992.tb05551.x.
• Jäger RJ, Harley VR, Pfeiffer RA, Goodfellow PN, Scherer G. A familial mutation in the testis-determining gene SRY shared by both sexes. Human Genetics. December 1992, 90 (4): 350–5. PMID 1483689. doi:10.1007/BF00220457.
• Vilain E, McElreavey K, Jaubert F, Raymond JP, Richaud F, Fellous M. Familial case with sequence variant in the testis-determining region associated with two sex phenotypes. American Journal of Human Genetics. May 1992, 50 (5): 1008–11. PMC 1682588 . PMID 1570829.
• Müller J, Schwartz M, Skakkebaek NE. Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female. The Journal of Clinical Endocrinology and Metabolism. July 1992, 75 (1): 331–3. PMID 1619028. doi:10.1210/jc.75.1.331.
• McElreavey KD, Vilain E, Boucekkine C, Vidaud M, Jaubert F, Richaud F, Fellous M. XY sex reversal associated with a nonsense mutation in SRY. Genomics. July 1992, 13 (3): 838–40. PMID 1639410. doi:10.1016/0888-7543(92)90164-N.
• Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf AM, Lovell-Badge R, Goodfellow PN. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature. July 1990, 346 (6281): 240–4 [2020-01-18]. Bibcode:1990Natur.346..240S. PMID 1695712. doi:10.1038/346240a0. （原始内容存档 (PDF)于2021-03-22）.
• Berkovitz GD, Fechner PY, Zacur HW, Rock JA, Snyder HM, Migeon CJ, Perlman EJ. Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. Medicine. November 1991, 70 (6): 375–83. PMID 1956279. doi:10.1097/00005792-199111000-00003.
• Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellous M. Genetic evidence equating SRY and the testis-determining factor. Nature. November 1990, 348 (6300): 448–50. Bibcode:1990Natur.348..448B. PMID 2247149. doi:10.1038/348448A0.
• Jäger RJ, Anvret M, Hall K, Scherer G. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature. November 1990, 348 (6300): 452–4. Bibcode:1990Natur.348..452J. PMID 2247151. doi:10.1038/348452a0.
• Ellis NA, Goodfellow PJ, Pym B, Smith M, Palmer M, Frischauf AM, Goodfellow PN. The pseudoautosomal boundary in man is defined by an Alu repeat sequence inserted on the Y chromosome. Nature. January 1989, 337 (6202): 81–4. Bibcode:1989Natur.337...81E. PMID 2909893. doi:10.1038/337081a0.
• Whitfield LS, Hawkins TL, Goodfellow PN, Sulston J. 41 kilobases of analyzed sequence from the pseudoautosomal and sex-determining regions of the short arm of the human Y chromosome. Genomics. May 1995, 27 (2): 306–11. PMID 7557997. doi:10.1006/geno.1995.1047.